HOME PRODUCTS SERVICES COMPANY CONTACT FAQ

Mucopolysaccharidosis II (Hunter Syndrome)

Subscribe to New Research on Mucopolysaccharidosis II

Systemic lysosomal storage disease marked by progressive physical deterioration and caused by a deficiency of L-sulfoiduronate sulfatase. This disease differs from MUCOPOLYSACCHARIDOSIS I by slower progression, lack of corneal clouding, and X-linked rather than autosomal recessive inheritance. The mild form produces near-normal intelligence and life span. The severe form usually causes death by age 15.

Also Known As:

Hunter Syndrome; Hunter's Syndrome; Hunter Syndrome Gargoylism; Mucopolysaccharidosis 2; Mucopolysaccharidosis Type 2; 2, Mucopolysaccharidosis Type; 2s, Mucopolysaccharidosis Type; Deficiencies, Iduronate 2-Sulfatase; Deficiencies, Iduronate Sulfatase; Deficiencies, Sulfoiduronate Sulfatase; Deficiency, Iduronate 2-Sulfatase; Deficiency, Iduronate Sulfatase; Deficiency, Sulfoiduronate Sulfatase; Hunters Syndrome; IIs, Mucopolysaccharidosis; Iduronate 2 Sulfatase Deficiency; Iduronate 2-Sulfatase Deficiencies; Iduronate Sulfatase Deficiencies; Mucopolysaccharidosis IIs; Mucopolysaccharidosis Type 2s; Sulfatase Deficiencies, Iduronate; Sulfatase Deficiencies, Sulfoiduronate; Sulfatase Deficiency, Iduronate; Sulfatase Deficiency, Sulfoiduronate; Sulfoiduronate Sulfatase Deficiencies; Syndrome, Hunter's; Type 2, Mucopolysaccharidosis; Type 2s, Mucopolysaccharidosis; Gargoylism, Hunter Syndrome; Iduronate 2-Sulfatase Deficiency; Iduronate Sulfatase Deficiency; Sulfoiduronate Sulfatase Deficiency

Networked: 236 relevant articles (12 outcomes, 19 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Mucopolysaccharidoses
2.	Mucopolysaccharidosis I (Hurler Syndrome)
3.	Mucopolysaccharidosis VI (Syndrome, Maroteaux-Lamy)
4.	Fabry Disease (Fabry's Disease)
5.	Gaucher Disease (Gaucher's Disease)

Experts

1.	Giugliani, Roberto: 14 articles (01/2015 - 08/2006)
2.	Muenzer, Joseph: 11 articles (01/2014 - 11/2005)
3.	Jin, Dong-Kyu: 10 articles (02/2015 - 04/2003)
4.	Beck, Michael: 9 articles (01/2012 - 08/2006)
5.	Sohn, Young Bae: 7 articles (02/2015 - 01/2012)
6.	Scarpa, Maurizio: 7 articles (01/2014 - 11/2005)
7.	Suzuki, Yasuyuki: 5 articles (02/2015 - 01/2010)
8.	Whiteman, David A H: 5 articles (01/2015 - 02/2011)
9.	Kim, Su Jin: 5 articles (02/2014 - 07/2010)
10.	Tomanin, Rosella: 5 articles (01/2014 - 11/2005)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Mucopolysaccharidosis II:

1.	idursulfase FDA Link 02/19/2007 - "A recent randomised, double-blind, placebo-controlled, multi-centre and multinational study in phase II/III conducted with 96 patients with Hunter syndrome over one year showed that the administration of 0.5 mg/kg doses of idursulfase significantly improved the final 'combined' score, which was the sum of the changes in the percentage of predicted forced vital capacity and in the 6-minute walk test, in comparison to the response obtained with a placebo. " 02/01/2015 - "This study indicates that the safety and efficacy of idursulfase beta are similar to those reported in Hunter syndrome patients aged 6 years or older." 02/01/2015 - "The objective of this study was to evaluate the safety and efficacy of ERT with idursulfase beta in Hunter syndrome children younger than 6 years. " 08/01/2006 - "To evaluate the safety and efficacy of recombinant human iduronate-2-sulfatase (idursulfase) in the treatment of mucopolysaccharidosis II. Ninety-six mucopolysaccharidosis II patients between 5 and 31 years of age were enrolled in a double-blind, placebo-controlled trial. " 05/01/2013 - "In conclusion, the data showed an improvement in growth rate in patients with Hunter syndrome following idursulfase treatment."
2.	Iduronic Acid (Iduronate)IBA 03/01/2007 - "Hunter syndrome (MC KUSIK 309900) or mucopolysacharidosis type II is due to the deficiency of the enzyme iduronate 2 sulfate sulfatase (E.C. " 01/01/2007 - "When the assay was tested on dried blood spots, the iduronate 2-sulfatase activity measured for 13 patients with Hunter syndrome was well below the interval found for 57 randomly chosen newborns. " 01/01/2006 - "Hunter's Syndrome (MPS II) is a class of hereditary disorder characterized by a deficiency of specific enzyme--iduronate sulphatase required to break down mucopolisacharides and occurs in Poland in one of 100-150 thousand male live births. " 04/01/2003 - "Mutational spectrum of the iduronate 2 sulfatase gene in 25 unrelated Korean Hunter syndrome patients: identification of 13 novel mutations." 05/01/1999 - "The activity of iduronate sulphatase in the lymphocytes was deficient, which was diagnostic for Hunter syndrome. "
3.	EnzymesIBA 05/01/2014 - "However, long-term clinical evaluations of Hunter syndrome patients treated with these two enzymes will be needed to demonstrate the clinical implications of significant difference of the enzyme activity and the FGly content." 12/01/2007 - "We postulated that the p.Y54X mutation which causes a loss of the IDS region highly conserved among sulfatase enzymes, could be predicted as a severe disease-causing mutation for Hunter syndrome." 01/01/2007 - "Tandem mass spectrometry for the direct assay of enzymes in dried blood spots: application to newborn screening for mucopolysaccharidosis II (Hunter disease)." 05/01/2014 - "A biochemical and physicochemical comparison of two recombinant enzymes used for enzyme replacement therapies of hunter syndrome." 02/01/2011 - "Tandem mass spectrometry for the direct assay of lysosomal enzymes in dried blood spots: application to screening newborns for mucopolysaccharidosis II (Hunter Syndrome)."
4.	iduronate 2-sulfateIBA 04/27/1981 - "An improved assay for iduronate 2-sulphate sulphatase in serum and its use in the detection of carriers of the Hunter syndrome." 06/01/2005 - "Hunter syndrome is a lysosomal disorder characterized by iduronate 2-sulphate sulphatase (IDS) genetic deficiency. " 09/01/1983 - "Specific odds of a female being a carrier of Hunter syndrome were based on serum levels of iduronate 2-sulphate sulphatase activity. " 04/27/1981 - "A more sensitive assay procedure has been developed for the enzyme iduronate 2-sulphate sulphatase which is deficient in the Hunter syndrome. " 01/01/1988 - "The X-linked Hunter syndrome or mucopolysaccharidosis II was diagnosed in a male fetus by demonstrating a severe deficiency of iduronate 2-sulphate sulphatase activity in fetal plasma obtained by umbilical fetal blood sampling at 23 weeks of pregnancy. "
5.	PlasticsIBA 02/01/2002 - "We report a case of a 22-year-old male with Hunter syndrome who developed progressive major airway obstruction and was treated with insertion of plastic and metallic stents, with dramatic improvement in the patient's symptomatic and functional status. "
6.	Complementary DNA (cDNA)IBA 07/01/1992 - "We have used screening with the polymerase chain reaction and chemical mismatch detection of amplified cDNA to detect and characterize deletions and point mutations in six Hunter Syndrome patients. " 04/01/1992 - "Murine X-linked genes corresponding to the human Fragile X (FMR1) and Hunter syndrome (IDS) loci have been mapped in an interspecific backcross between B6CBA-Aw-J/A-Bpa and Mus spretus using human cDNA clones. " 01/01/1992 - "Gene diagnosis and carrier detection in Hunter syndrome by the iduronate-2-sulphatase cDNA probe." 06/01/1991 - "Further analysis of IDS cDNA from other patients with Hunter's syndrome may eventually enable phenotype to be predicted more accurately." 03/01/1991 - "The cDNA clone was also shown to span the X chromosome breakpoint in a female Hunter syndrome patient with an X;autosome translocation."
7.	GlycosaminoglycansIBA 07/01/2015 - "Elevated urinary glycosaminoglycans levels or a strong clinical suspicion of Hunter's syndrome, as identified in the index case, is a prerequisite for enzyme activity testing. " 06/01/2014 - "Hunter syndrome is a genetic disorder where iduronate-2-sulfatase (I2S), an enzyme that degrades glycosaminoglycans, is absent or deficient. " 01/01/2011 - "We report the IDS mutation and polymorphisms causing the Hunter syndrome in patients from one family in Tunisia A preliminary diagnosis was made by qualitative detection of urinary glycosaminoglycans of the suspected MPS II probands. " 12/01/2009 - "In the absence of sufficient enzyme activity, glycosaminoglycans accumulate in the lysosomes of many tissues and organs and contribute to the multisystem, progressive pathologies seen in Hunter syndrome. " 02/01/2008 - "In patients with mucopolysaccharidosis II, glycosaminoglycans accumulate within tissues and organs, contributing to the signs and symptoms of the disease. "
8.	Iduronate SulfataseIBA 05/01/2000 - "Hunter syndrome is an X-linked metabolic storage disorder arising from deficiency of iduronate sulfatase enzyme activity. " 03/01/1998 - "We describe 12 Hunter's syndrome patients and seven carriers, with precise analysis of glycosaminoglycan content in urine and iduronate sulfatase activity in cultured fibroblasts and plasma. " 01/01/1995 - "Evidence for an iduronate-sulfatase pseudogene near the functional Hunter syndrome gene in Xq27.3-q28." 01/01/1992 - "The iduronate sulfatase gene: isolation of a 1.2-Mb YAC contig spanning the entire gene and identification of heterogeneous deletions in patients with Hunter syndrome." 08/01/1991 - "The mechanism of profound generalized iduronate sulfatase (IDS) deficiency in a developmentally delayed female with clinical Hunter syndrome was studied. "
9.	DNA (Deoxyribonucleic Acid)IBA 01/01/1999 - "We have screened DNA samples from a panel of 24 unrelated Hunter syndrome patients and have identified mutations in 16 individuals. " 08/01/1998 - "Reassessment of biochemically determined Hunter syndrome carrier status by DNA testing." 04/01/1997 - "We have previously shown that patients with the Hunter syndrome frequently have suffered from a recombination event between the IDS gene and its putative pseudogene, IDS-2, resulting in an inversion of the intervening DNA. " 01/01/1995 - "The existence of the IDS2 locus complicates the diagnosis of mutations in genomic DNA from patients with Hunter syndrome. " 11/01/1993 - "We describe the DNA linkage analysis in 6 Hunter syndrome families and compare it to previous results based on a serum assay for IDS activity. "
10.	Messenger RNA (mRNA)IBA 04/01/2006 - "The present study aimed to characterize mutant alleles in Mucopolysaccharidosis II and evaluate possible reduction of mRNA amount consequent to nonsense-mediated or nonstop mRNA decay pathways. " 11/01/1992 - "Eight unrelated patients with Hunter syndrome were investigated for expression of iduronate-2-sulfatase (IDS) mRNA by reverse transcription (RT) linked to polymerase chain reaction (PCR), or RT-PCR. " 11/01/1992 - "Assessment of iduronate-2-sulfatase mRNA expression in Hunter syndrome (mucopolysaccharidosis type II)." 02/01/1996 - "We have identified the mutations in the iduronate-2-sulfatase (IDS) gene of five unrelated Norwegians with Hunter syndrome by reverse transcription-polymerase chain reaction (RT-PCR) analysis of IDS mRNA followed by single strand conformation polymorphism (SSCP) analysis and cDNA sequencing. "

Therapies and Procedures

1.	Enzyme Replacement Therapy 01/01/2010 - "The goal of this study is to describe the musculoskeletal manifestations of children with MPS II (Hunter syndrome), and their functional response to intravenous enzyme replacement therapy (ERT). " 09/01/2014 - "No published clinical trial data are available to inform the use of enzyme replacement therapy (ERT) in patients with the severe (neuropathic) phenotype of mucopolysaccharidosis II (MPS II). " 01/01/2014 - "Enzyme Replacement Therapy in Mucopolysaccharidosis II Patients Under 1 Year of Age." 04/01/2013 - "Parental experience of enzyme replacement therapy for Hunter syndrome." 01/01/2013 - "We present a severe case of Hunter syndrome diagnosed at age 2 years and 4 months, who started enzyme-replacement therapy at the age of 3 years and 3 months. "
2.	Stents 02/01/2002 - "To the best of our knowledge, this is the first reported case of endoluminal stents being used in the management of major airway obstruction in a patient with Hunter syndrome." 04/01/2013 - "One stent was not removed due to mucopolysaccharidosis type II (MPS II or Hunter syndrome) with tracheomalacia. " 02/01/2002 - "Tracheobronchial stent insertions in the management of major airway obstruction in a patient with Hunter syndrome (type-II mucopolysaccharidosis)." 02/01/2002 - "We report a case of a 22-year-old male with Hunter syndrome who developed progressive major airway obstruction and was treated with insertion of plastic and metallic stents, with dramatic improvement in the patient's symptomatic and functional status. "
3.	Continuous Positive Airway Pressure 04/01/2008 - "In our clinic, continuous positive airway pressure (CPAP), in which inspired air at elevated pressure is delivered through a specially designed mask, has proved to be effective for reducing sleep apnoea in patients with Hunter syndrome. "
4.	Hematopoietic Stem Cell Transplantation 10/01/2013 - "Our study aim is the evaluation of long-term effects of hematopoietic stem cell transplantation on Italian patients with severe Hunter syndrome. " 10/01/2013 - "The hematopoietic stem cell transplantation was successful in slowing the progression of Hunter syndrome, and even the evolution of neurological feature of the disease was slower in the first years after this treatment." 10/01/2013 - "On the contrary, the hematopoietic stem cell transplantation did not prove to have long-term effectiveness on neurological symptoms of Hunter syndrome. " 10/01/2013 - "Four boys, suffering from Hunter syndrome, severe phenotype, received hematopoietic stem cell transplantation between 2 years 6 months and 2 years 11 months of age, from 1992 to 2001. " 02/01/2014 - "Patients with Hurler or Hunter syndrome typically have moderate to severe growth deficiencies despite therapy with allogeneic hematopoietic stem cell transplantation and/or enzyme replacement therapy. "
5.	Plasma Exchange 11/01/1982 - "We performed enzyme-replacement treatment by plasma exchange in five Hunter syndrome children. " 11/01/1982 - "Administration of iduronate sulfatase by plasma exchange to patients with the Hunter syndrome: a clinical study."